ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)

gnomAD frequency: 0.00014  dbSNP: rs369587906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000330912 SCV000345209 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079036 SCV000649185 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-11-11 criteria provided, single submitter clinical testing

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